P75S (p.Pro75Ser) variant of CACNA1S (Q13698)
P75S (p.Pro75Ser) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P75S (p.Pro75Ser) variant details
- p.Pro75Ser
- ExAC rs749003741
- gnomAD rs749003741
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.82
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available